Jun 1, 2022 · SMARCB1 (SWI / SNF related, matrix associated, actin dependent regulator of chromatin subfamily B member 1), INI1 (integrase interactor 1), BAF47, hSNF5

Mutations, deletions, and other somatic alterations in the tumor suppressor gene INI1 (hSNF5; SMARCB1), which encodes a subunit of the SWI/SNF chromatin remodeling complex, were first described in the malignant rhabdoid tumor of infancy.

SWI/SNF -related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene. [5][6][7] The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively.

Jun 30, 2020 · The SMARCB1/INI1 gene was first discovered in the mid-1990s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression.

Integrase interactor 1 (INI1) is a member of the SWI/SNF (SWItch/sucrose non-fermentable) chromatin remodeling complex, which play an important role in regulation of transcription by modulating access of protein to DNA. Loss of function of these complexes has been implicated in human cancers.

SMARCB1/INI1 is one of the core subunit proteins of the ATP‐dependent SWI/SNF chromatin remodeling complex, and is identified as a potent and bona fide tumor suppressor. Interactions have been demonstrated between SMARCB1/INI1 and key proteins in ...

SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare but locally aggressive malignancy of the nasal cavity and paranasal sinuses, representing only about 1% of all head and neck malignancies [1, 2]. SMARCB1 (INI1) is a core subunit of the SWItch/sucrose non-fermentable (SWI/SNF) complex mapped to chromosomal region 22q11.23.

SMARCB1/INI1 geneは22q11.2に存在する遺伝子であり、基本的にはすべての正常細胞や腫瘍での発現が認められる。 ただし、AT/RTおよび腎のmalignant rhabdoid tumorでは同部位の遺伝子が欠損、もしくはmutationしているため、この遺伝子産物である蛋白が作られず、 陰性 となる。 SMARCB1/INI1は基本的にはすべての細胞で陽性を示すのでかならず、血管内皮やリンパ球 …

INI1/hSNF5, a component of the chromatin remodeling SWI/SNF complex, is a critical tumor suppressor biallelically inactivated in rhabdoid tumors. Identification of INI1 as a tumor suppressor has facilitated accurate diagnosis of rhabdoid tumors.

Jul 21, 2022 · In a retrospective analysis of 1479 intrathoracic malignant neoplasms using immunohistochemistry for INI1 (SMARCB1) on tissue micro arrays (TMA) and a search through our hospital sarcoma...